Publications by authors named "Jenny C Taylor"

81Publications

Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.

Neuromuscul Disord 2021 Jan 20;31(1):21-28. Epub 2020 Oct 20.

Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK; Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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January 2021

Multiple Endocrine Neoplasia Type 1 (MEN1) 5'UTR Deletion, in MEN1 Family, Decreases Menin Expression.

J Bone Miner Res 2020 Aug 11. Epub 2020 Aug 11.

Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Oxford, UK.

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August 2020

Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.

Am J Med Genet A 2020 11 9;182(11):2521-2528. Epub 2020 Aug 9.

Oxford Centre for Diabetes, Endocrinology & Metabolism (OCDEM), Churchill Hospital, University of Oxford, Oxford, UK.

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November 2020

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.

Nat Commun 2020 04 8;11(1):1740. Epub 2020 Apr 8.

Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.

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April 2020

MichelaNglo: sculpting protein views on web pages without coding.

Bioinformatics 2020 05;36(10):3268-3270

Structural Genomics Consortium, University of Oxford, Old Road Campus Research Building, Oxford OX3 7DQ, UK.

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May 2020

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.

Front Immunol 2019 7;10:1150. Epub 2019 Jun 7.

Clinical Immunology Service, Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham, United Kingdom.

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November 2020

Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease.

Eur J Hum Genet 2019 11 11;27(11):1639-1648. Epub 2019 Jun 11.

Health Economics Research Centre, Nuffield Department of Population Health, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK.

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November 2019

Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation.

J Crohns Colitis 2020 Jan;14(1):142-147

Translational Gastroenterology Unit, NIHR Oxford Biomedical Research Centre, Nuffield Department of Experimental Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

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January 2020

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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June 2019

Clinical spectrum of -related epileptic disorders.

Neurology 2019 03 8;92(11):e1238-e1249. Epub 2019 Feb 8.

From the University of Tübingen (S. Wolking, J.M., Y.G.W., H.L., J.S.), Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany; Luxembourg Centre for Systems Biomedicine (P.M.), University of Luxembourg, Esch-sur-Alzette; Pediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G., C.M.), Children's Hospital Anna Meyer, University of Florence, Italy; Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Department of Clinical and Experimental Epilepsy (S.B.), UCL Institute of Neurology and Epilepsy Society, UK, London; Division of Neurology (K.L.H., I.H.), Children's Hospital of Philadelphia, PA; Department of Pediatric Neurology (C.D.A.), Centre de Compétences Maladies Rares, CHU Besançon; Service de Génétique (N.C.), Hospices Civils des Lyon, Bron; GENDEV Team (N.C.), Neurosciences Research Center of Lyon, Bron, France; Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Beaumont Hospital (P.W.-W.), Dublin, Ireland; Department of Pediatrics, Division of Medical Genetics, Institute of Human Genetics (B.A.M.), Departments of Neurology and Pediatrics (A.N.), and Departments of Neurology and Pediatrics, and Institute of Human Genetics (M.R.C.), University of California, San Francisco; Department of Neurology (W.V.P.), University Hospitals Leuven, Belgium; Department of Pediatrics (L.L.S.), Hvidovre Hospital, Denmark; King's College Hospital (S.O., E.H., S.G., D.K.P.), London; Evelina London Children's Hospital (S.O., E.H., S.G.), London, UK; Section of Genetics (K.B., M.S.S.), Department of Pediatrics, University of Colorado and Children's Hospital Colorado, Aurora; Clinique Bernoise Montana (T.D.), Crans-Montana, Switzerland; Department of Neuropediatrics (H.M.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics (A.T.P., S.J.L.K., J.C.T.) and Department of Oncology (D.V.V.), University of Oxford, UK; Epilepsy Center (M.P.C.), Health Sciences Department, San Paolo Hospital, University of Milan; Child Neuropsychiatry (F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., C.K.), Mayo Clinic, Rochester, MN; Ambry Genetics (Z.P.), Aliso Viejo, CA; Department of Clinical Neuroscience (S.T.), King's College London; New Medicines (M.A., D.M.), UCB Pharma, Slough, UK; Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation (G.J.K.), PMU Salzburg, Austria; Department of Neurology (D.H.L.), University of California, San Francisco; Neurogenetics Group (S. Weckhuysen), Center for Molecular Neurology, VIB, Antwerp; Laboratory of Neurogenetics (S. Weckhuysen), Institute Born-Bunge, University of Antwerp; Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Antwerp, Belgium; Department of Basic & Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience (D.K.P.), MRC Centre for Neurodevelopmental Disorders (D.K.P.), King's College London, UK; Evelina London Children's Hospital (D.K.P.), London, UK; Department of Neuropediatrics (I.H.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Institute of Neuroscience (R.H.T.), Henry Wellcome Building, Newcastle University; Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, Swansea, UK; Service de Génétique (G.L.), Hospices Civils des Lyon, Bron; GENDEV Team (G.L.), Neurosciences Research Center of Lyon, Bron, France; NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, London, UK; Cologne Center for Genomics (D.L.), University of Cologne, Germany; Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Cambridge; Psychiatric and Neurodevelopmental Genetics Unit (D.L.), Massachusetts General Hospital and Harvard Medical School, Boston.

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March 2019

Deep learning for detecting tumour-infiltrating lymphocytes in testicular germ cell tumours.

J Clin Pathol 2019 Feb 5;72(2):157-164. Epub 2018 Dec 5.

Nuffield Department of Surgical Sciences and NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.

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February 2019

Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series.

Lancet Gastroenterol Hepatol 2018 09 2;3(9):635-643. Epub 2018 Jul 2.

Oxford Centre for Cancer Gene Research, Wellcome Trust Centre for Human Genetics, Oxford, UK; Genomic Medicine Theme, National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, Oxford, UK; Cancer Genetics and Evolution Laboratory, Institute of Cancer and Genomic Sciences, University of Birmingham, Edgbaston, Birmingham, UK.

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September 2018

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.

Hum Mutat 2018 06 30;39(6):822-826. Epub 2018 Mar 30.

National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, Oxfordshire, UK.

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June 2018

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.

Genet Med 2018 10 15;20(10):1122-1130. Epub 2018 Feb 15.

Health Economics Research Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.

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October 2018

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study.

Eur J Hum Genet 2018 05 13;26(5):652-659. Epub 2018 Feb 13.

Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

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May 2018

A high throughput screen for active human transposable elements.

BMC Genomics 2018 02 1;19(1):115. Epub 2018 Feb 1.

Wellcome Trust Centre for Human Genetics, Oxford, UK.

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February 2018

Hierarchical probabilistic models for multiple gene/variant associations based on next-generation sequencing data.

Bioinformatics 2017 Oct;33(19):3058-3064

National Health Service Translational Molecular Diagnostics Centre, Oxford University Hospitals, John Radcliffe Hospital, Oxford, OX3 9DU UK.

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October 2017

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study.

Eur J Hum Genet 2017 06 22;25(6):680-686. Epub 2017 Mar 22.

Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

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June 2017

Activation of an exonic splice-donor site in exon 30 of in a patient with severe microcephaly and pigmentary abnormalities.

Clin Case Rep 2016 Oct 23;4(10):952-956. Epub 2016 Aug 23.

Department of Clinical Genetics Oxford University Hospitals NHS Foundation Trust Oxford UK.

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October 2016

ReliableGenome: annotation of genomic regions with high/low variant calling concordance.

Bioinformatics 2017 01 7;33(2):155-160. Epub 2016 Sep 7.

Wellcome Trust Centre of Human Genetics, University of Oxford, Oxford OX3 7BN, UK.

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January 2017

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.

Am J Med Genet A 2016 11 19;170(11):2988-2992. Epub 2016 Aug 19.

Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, United Kingdom.

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November 2016

De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation.

Cell Rep 2016 06 26;15(10):2251-2265. Epub 2016 May 26.

EMBL Australia, The Australian Regenerative Medicine Institute, Monash University, Clayton, VIC 3800, Australia; The Harry Perkins Institute of Medical Research, QEII Medical Centre and Centre for Medical Research, the University of Western Australia, Nedlands, WA 6009, Australia. Electronic address:

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June 2016

Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.

Clin Immunol 2016 Feb 8;163:17-21. Epub 2015 Dec 8.

Nuffield Department of Medicine, Experimental Medicine Division, University of Oxford, UK; Oxford NIHR Biomedical Research Centre, John Radcliffe Hospital, Oxford, UK.

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February 2016

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

J Med Genet 2016 Mar 5;53(3):152-62. Epub 2015 Nov 5.

INSIGNEO Institute for in silico medicine, Sheffield University, Sheffield, UK Sheffield Institute for Translational Neuroscience, Sheffield University, Sheffield, UK Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.

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March 2016

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Authors:
Jenny C Taylor Hilary C Martin Stefano Lise John Broxholme Jean-Baptiste Cazier Andy Rimmer Alexander Kanapin Gerton Lunter Simon Fiddy Chris Allan A Radu Aricescu Moustafa Attar Christian Babbs Jennifer Becq David Beeson Celeste Bento Patricia Bignell Edward Blair Veronica J Buckle Katherine Bull Ondrej Cais Holger Cario Helen Chapel Richard R Copley Richard Cornall Jude Craft Karin Dahan Emma E Davenport Calliope Dendrou Olivier Devuyst Aimée L Fenwick Jonathan Flint Lars Fugger Rodney D Gilbert Anne Goriely Angie Green Ingo H Greger Russell Grocock Anja V Gruszczyk Robert Hastings Edouard Hatton Doug Higgs Adrian Hill Chris Holmes Malcolm Howard Linda Hughes Peter Humburg David Johnson Fredrik Karpe Zoya Kingsbury Usha Kini Julian C Knight Jonathan Krohn Sarah Lamble Craig Langman Lorne Lonie Joshua Luck Davis McCarthy Simon J McGowan Mary Frances McMullin Kerry A Miller Lisa Murray Andrea H Németh M Andrew Nesbit David Nutt Elizabeth Ormondroyd Annette Bang Oturai Alistair Pagnamenta Smita Y Patel Melanie Percy Nayia Petousi Paolo Piazza Sian E Piret Guadalupe Polanco-Echeverry Niko Popitsch Fiona Powrie Chris Pugh Lynn Quek Peter A Robbins Kathryn Robson Alexandra Russo Natasha Sahgal Pauline A van Schouwenburg Anna Schuh Earl Silverman Alison Simmons Per Soelberg Sørensen Elizabeth Sweeney John Taylor Rajesh V Thakker Ian Tomlinson Amy Trebes Stephen Rf Twigg Holm H Uhlig Paresh Vyas Tim Vyse Steven A Wall Hugh Watkins Michael P Whyte Lorna Witty Ben Wright Chris Yau David Buck Sean Humphray Peter J Ratcliffe John I Bell Andrew Om Wilkie David Bentley Peter Donnelly Gilean McVean

Nat Genet 2015 Jul 18;47(7):717-726. Epub 2015 May 18.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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July 2015

Human slack potassium channel mutations increase positive cooperativity between individual channels.

Cell Rep 2014 Dec 4;9(5):1661-1672. Epub 2014 Dec 4.

Department of Pharmacology, Yale University, New Haven, CT 06520, USA; Department of Cellular and Molecular Physiology, Yale University, New Haven, CT 06520, USA. Electronic address:

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December 2014

Impact of month of birth on the development of autoimmune thyroid disease in the United Kingdom and Europe.

J Clin Endocrinol Metab 2014 Aug 19;99(8):E1459-65. Epub 2014 May 19.

Oxford Centre for Diabetes, Endocrinology, and Metabolism (A.H., J.A.H.W., S.C.L.G., M.J.S.), Department of Physiology, Anatomy, and Genetics (G.D., S.V.R.), and Oxford National Institute for Health Research Biomedical Research Centre (J.C.T.), Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7LE, United Kingdom; Centre for Endocrinology, Diabetes, and Metabolism (P.R.N., J.D.C.-S., J.A.F.), School of Clinical and Experimental Medicine, College of Medical and Dental Science, Institute of Biomedical Research, University of Birmingham, Birmingham B15 2TT, United Kingdom; Northern General Hospital (A.A.), Sheffield S5 7AU, United Kingdom; Royal Bournemouth Hospital (M.A.), Bournemouth BH7 7DW, United Kingdom; Department of Endocrinology and Metabolism (T.H.B., L.H.), Odense University Hospital, DK-5000 Odense, Denmark; Department of Medicine (K.C.), University of Cambridge, Cambridge CB2 1TN, United Kingdom; School of Medicine (J.M.C.), University of Dundee, Dundee DD1 9SY, United Kingdom; Department of Medicine (P.J.H.), University of Otago, Dunedein 9016, New Zealand; Centre for Endocrine and Diabetes Sciences (J.H.L.), Cardiff University, Cardiff C14 4XN, United Kingdom; Institute of Genetic Medicine (S.H.P.), Newcastle University, Newcastle-upon-Tyne NE1 3BZ, Newcastle, United Kingdom; Kolling Institute (B.G.R.), Royal North Shore Hospital and The University of Sydney, Sydney NSW 2006, Australia; Royal Devon and Exeter Hospital (B.V.), Exeter EX2 5DW, United Kingdom; Department of Endocrinology and Metabolism (W.M.W.), University of Amsterdam, 1100 DE Amsterdam, The Netherlands; Department of Human Metabolism (A.P.W.), University of Sheffield, Sheffield S10 2RX, United Kingdom; and Oxford National Institute for Health Research Biomedical Research Centre (S.C.L.G.), Churchill Hospital, Oxford OX3 7LE, United Kingdom.

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August 2014

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Am J Hum Genet 2014 Feb 16;94(2):278-87. Epub 2014 Jan 16.

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, 13353 Berlin, Germany; Berlin Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address:

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February 2014